XXXXY syndrome

XXXXY syndrome
Other namesFraccaro syndrome 49,XXXXY syndrome
A 19-year-old boy with XXXXY syndrome and prognathism
SpecialtyMedical genetics
Usual onsetPrenatal
DurationLifelong
CausesCellular nondisjunction during meiosis
Diagnostic methodKaryotype
Frequency1 in 85,000 to 100,000

XXXXY syndrome, also known as 49,XXXXY syndrome or Fraccaro syndrome, is an extremely rare aneuploidic sex chromosomal abnormality. It occurs in approximately 1 out of 85,000 to 100,000 males. This syndrome is the result of maternal non-disjunction during both meiosis I and II. It was first diagnosed in 1960 and was coined Fraccaro syndrome after the researcher.